血清淀粉样蛋白A1基因多态性对汉族人群颈动脉内中膜厚度的影响

Objective To explore the association between genetic polymorphism of serum amyloid protein A1 (SAA1) with carotid intima media thickness in a healthy Han Chinese population of Xinjiang. Methods A total of 449 healthy Han Chinese participating the cardiovascular risk survey between June 2007 and September 2009 were included, the genotypes of the SAA1 were detected by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). The mean IMT of the right and left common carotid arteries were measured by B-mode ultrasonography. Results (1) There was strong linkage disequilibrium between rs12218 and rs2229338 (D'=0. 89). (2) The carotid common IMT (CC-IMT) and the carotid bulb IMT (CB-IMT) were similar between the AA genotype (wild genotype) and the GGFAG genotype (mutational genotype) in rs2229338 of SAA1 gene. (3) CC-IMT[(0.081 ±0.071)cm vs (0.068 ±0. 019 ) cm, P = 0. 01] was significantly thicker in CC + CT genotype ( mutational genotype) group than in TT genotype (wild genotype) of rs12218 group and the difference remains significant after adjustment for age,gender,blood pressure, waist circumference, creatinine and high density lipoprotein cholesferoL CB-IMT [(0.085±0. 038)cm vs. (0.081 ± 0. 052) cm,P =0. 36] was similar between CC +CT genotype and TT genotype of rs12218 groups. Conclusion Our results suggested that the genetic polymorphism of SAA1 might be linked with IMT and rs12218 mutation could serve as a promoting factor for IMT in Han Chinese people.     

Relationship between β-fibrinogen gene - 455G/A,- 148C/T polymorphisms and atrial fibrillation with cerebral infarction

Objective To investigate the relationship between β-fibrinogen (β-Fg) gene -455G/A,- 148C/T polymorphisms and atrial fibrillation (AF) with cerebral infarction.Methods Polymerase chain reaction-restriction fragment length polymorphism was used to detect the genotypes of -455G/A and -148C/T in 97 patients with AF with cerebral infarction (AF with cerebral infarction group),80 patients with AF alone (AF group),and 98 health subjects (healthy control group).Results The A allele frequencies of -455G/A in the AF with cerebral infarction group and the AF group were 0.304 and 0.344 respectively.They were significantly higher than 0.179 in the healthy control group (all P＜0.05).The T allele frequencies of - 148C/T in the AF with cerebral infarction group and the AF group were 0.348and 0.369,respectively.They were significant higher than 0.240 in the healthy control group (all P＜0.05).Conclusions The A allele of -455G/A and the T allele of -148C/T were associated with AF with cerebral infarction and AF.     

转化生长因子β_1基因标签单核苷酸多态性与新疆汉族原发性高血压相关性研究

Objective Essential hypertension (EH) was a complex disease resulted from the interaction of cumulative effect of multiple genetic and environment factors. The relationship between the genetic polymorphisms in the transforming growth factor-β_1 ( TGF-β_1 ), the blood levels and EH have been investigated, but the conclusions were different. Therefore, we investigate the relationship between the tagging single nucleotide polymorphisms (tSNPs) ( rs1800469, rs2241716, rs11466345, rs2241715,rs4803455) in TGF-β_1 gene, blood levels and EH in the Han nationality population in Xinjiang, to clarity the pattern of linkage disequilibrium (LD) and the feature of the structure of haplotype. Methods Based on the case-control study,we selected 732 (365 EH patients,367 controls) Han Chinese population from the Boertonggu countryside of Shawan region in the Xinjiang Uygur Autonomous Region of China by random cluster sampling. After questionnaire and physical examination, we collected blood samples, and the blood levels of TGF-β_1, were quantified using sandwich ELISA. The polymorphisms of TGF-β_1 gene in the study groups were detected with SNaPshot system. The case-control study in a large group was carried out separately for each of the tSNP and followed up by haplotypes analyses to determine the relation between tSNPs of TGF-β_1 gene and EH in the Han population. Results ( 1 ) The frequencies of alleles A, G of rs11466345 of TGF-β_1, gene in EH group and control group were as follows: 69.7%, 30. 3% ,74.4%,25.6%, respectively. It was demonstrated that the G allele of the rs11466345 polymorphism occurred at a significantly higher frequency in EH patients than in healthy controls (30. 3% vs. 25. 6%, P <0. 05). The rs11466345G-allele carriers had a significantly increased risk of EH compared to rs11466345A -allele carrier ( OR = 1. 261 ; P <0. 05). The frequencies of genotypes and alleles of the other tSNPs of TGF-β_1 gene had no difference between EH patients and controls ( P > 0. 05 ). (2) Except the site of rs11466345, the other tSNPs were in strong LD, and no statistical differences were observed in haplotypes distribution in the followup study between case-control groups (P >0. 05). (3) There were no difference of TGF-β_1 levels between the different genotypes and alleles in tSNPs of TGF-β_1 gene ( P > 0. 05 ). Conclusions ( 1 ) These results suggested that TGF-β_1 gene rs11466345 G allele was likely to be a genetic susceptibility factor for EH in the Xinjiang Han population, the other tSNPs perhaps had no association with EH of in the study groups. (2) Except rs11466345, the other tSNPs were in strong LD, and the haplotypes reconsreucted by tSNPs might not be associated with EH in the Han nationality populations. (3) There was no association between the tSNP of TGF-β_1 gene and TGF-β_1 blood levels in the Xinjiang Han nationality population.     

转化生长因子β_1基因标签单核苷酸多态性与新疆汉族原发性高血压相关性研究

Objective Essential hypertension (EH) was a complex disease resulted from the interaction of cumulative effect of multiple genetic and environment factors. The relationship between the genetic polymorphisms in the transforming growth factor-β_1 ( TGF-β_1 ), the blood levels and EH have been investigated, but the conclusions were different. Therefore, we investigate the relationship between the tagging single nucleotide polymorphisms (tSNPs) ( rs1800469, rs2241716, rs11466345, rs2241715,rs4803455) in TGF-β_1 gene, blood levels and EH in the Han nationality population in Xinjiang, to clarity the pattern of linkage disequilibrium (LD) and the feature of the structure of haplotype. Methods Based on the case-control study,we selected 732 (365 EH patients,367 controls) Han Chinese population from the Boertonggu countryside of Shawan region in the Xinjiang Uygur Autonomous Region of China by random cluster sampling. After questionnaire and physical examination, we collected blood samples, and the blood levels of TGF-β_1, were quantified using sandwich ELISA. The polymorphisms of TGF-β_1 gene in the study groups were detected with SNaPshot system. The case-control study in a large group was carried out separately for each of the tSNP and followed up by haplotypes analyses to determine the relation between tSNPs of TGF-β_1 gene and EH in the Han population. Results ( 1 ) The frequencies of alleles A, G of rs11466345 of TGF-β_1, gene in EH group and control group were as follows: 69.7%, 30. 3% ,74.4%,25.6%, respectively. It was demonstrated that the G allele of the rs11466345 polymorphism occurred at a significantly higher frequency in EH patients than in healthy controls (30. 3% vs. 25. 6%, P <0. 05). The rs11466345G-allele carriers had a significantly increased risk of EH compared to rs11466345A -allele carrier ( OR = 1. 261 ; P <0. 05). The frequencies of genotypes and alleles of the other tSNPs of TGF-β_1 gene had no difference between EH patients and controls ( P > 0. 05 ). (2) Except the site of rs11466345, the other tSNPs were in strong LD, and no statistical differences were observed in haplotypes distribution in the followup study between case-control groups (P >0. 05). (3) There were no difference of TGF-β_1 levels between the different genotypes and alleles in tSNPs of TGF-β_1 gene ( P > 0. 05 ). Conclusions ( 1 ) These results suggested that TGF-β_1 gene rs11466345 G allele was likely to be a genetic susceptibility factor for EH in the Xinjiang Han population, the other tSNPs perhaps had no association with EH of in the study groups. (2) Except rs11466345, the other tSNPs were in strong LD, and the haplotypes reconsreucted by tSNPs might not be associated with EH in the Han nationality populations. (3) There was no association between the tSNP of TGF-β_1 gene and TGF-β_1 blood levels in the Xinjiang Han nationality population.     

Interleukin 28B-related polymorphisms: A pathway for understanding hepatitis C virus infection?

AIM:To analyze the role of rs12979860 and rs8099917polymorphisms in hepatitis C virus(HCV)genotype 1infection of Brazilians.METHODS:A total of 145 adult patients diagnosed with genotype 1 chronic hepatitis C(CHC)who had completed a 48-wk regimen of pegylated-interferonα-2a or-2b plus ribavirin combination therapy were recruited from six large urban healthcare centers and199 healthy blood donors(controls)from a single site between January 2010 and January 2012.Data on the patients’response to treatment was collected.Polymerase chain reaction-restriction fragment length polymorphism genotyping of the interleukin(IL)28B gene fragment encompassing the single nucleotide polymorphisms(SNPs)rs12979860(C/T)and rs8099917(T/G)was carried out for 79 of the CHC patients and 199 of the controls.Bi-directional amplicon sequencing of the two SNPs was carried out for the remaining 66 CHC patients.RESULTS:SNP rs12979860 genotyping was successful in 99.5%of the controls and 97.2%of the CHC patients,whereas the SNP rs8099917 genotyping was successful in 95.5%of the controls and 100%of the CHC patients.The genotype and allele distributions for both rs12979860 and rs8099917 were significantly different between the control and CHC patient groups,with significantly higher genotype frequencies of CC and TT in the controls(P=0.037 and 0.046,respectively)and of TT and GG in the CHC patients(P=0.0009and 0.0001,respectively).Analysis of the CHC patients who achieved sustained virological response(SVR)to treatment(n=55)indicated that the rs12979860 C allele and CC genotype were predictors of SVR(P=0.02).No significant correlation was found between rs8099917 genotypes and treatment response,but carriers of the T allele showed significantly higher rates of SVR(P=0.02).Linkage disequilibrium analysis of the group that achieved SVR showed a significant association between rs12979860 and rs8099917(P=0.07).CONCLUSION:The higher allele frequency of rs12979860 C and rs8099917 T observed in non-HCVinfected individuals may indicate a potential pro     

血清淀粉样蛋白A1基因多态性对汉族人群颈动脉内中膜厚度的影响

Objective To explore the association between genetic polymorphism of serum amyloid protein A1 (SAA1) with carotid intima media thickness in a healthy Han Chinese population of Xinjiang. Methods A total of 449 healthy Han Chinese participating the cardiovascular risk survey between June 2007 and September 2009 were included, the genotypes of the SAA1 were detected by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). The mean IMT of the right and left common carotid arteries were measured by B-mode ultrasonography. Results (1) There was strong linkage disequilibrium between rs12218 and rs2229338 (D'=0. 89). (2) The carotid common IMT (CC-IMT) and the carotid bulb IMT (CB-IMT) were similar between the AA genotype (wild genotype) and the GGFAG genotype (mutational genotype) in rs2229338 of SAA1 gene. (3) CC-IMT[(0.081 ±0.071)cm vs (0.068 ±0. 019 ) cm, P = 0. 01] was significantly thicker in CC + CT genotype ( mutational genotype) group than in TT genotype (wild genotype) of rs12218 group and the difference remains significant after adjustment for age,gender,blood pressure, waist circumference, creatinine and high density lipoprotein cholesferoL CB-IMT [(0.085±0. 038)cm vs. (0.081 ± 0. 052) cm,P =0. 36] was similar between CC +CT genotype and TT genotype of rs12218 groups. Conclusion Our results suggested that the genetic polymorphism of SAA1 might be linked with IMT and rs12218 mutation could serve as a promoting factor for IMT in Han Chinese people.     

中国沿海地区汉族男性人群白细胞介素-1β-31C/T基因多态性与痛风的易感性研究

目的 探讨山东省沿海地区中国汉族男性群体的白细胞介素(IL)-1β启动子区rs1143627(-31C/T)基因多态性的分布状况及其与痛风易感性之间的关系.方法 选取208例痛风患者和210名健康对照者,应用聚合酶链反应限制性片段长度多态性(RFLP)技术,检测中国汉族男性群体的IL-1β启动子区rs1143627(-31C/T)位点基因多态性与痛风发病的遗传易感性的关系.采用Hardy-Weinberg检验确认标本的群体代表性,数据分析采用χ2检验和t检验.结果 痛风组中IL-1β启动子区-31C/T位点CC,CT和TT基因型分别为32.7%,43.3%和24.0%,健康对照组分别为31.9%,46.2%和21.9%,2组比较差异无统计学意义(χ2=0.427,P>0.05);2组的等位基因频率C和T间差异也无统计学意义(分别为54.3%,55.0%;45.7%,45.0%;χ2=0.038,P>0.05).经χ2检验,IL-1β基因-31C/T位点基因多态性与痛风病的危险因素无显著性关联.结论 尚不能认为中国沿海地区汉族男性人群中IL-1β启动子区rs1143627(-31C/T)基因多态性与痛风有关联性.

Abstract：

Objective To explore gene polymorphism of the C/T genotype of rs1143627 in the promoter of IL-1β gene in male population living in the coastal area of Shandong, and thus to investigate the relationship between the gene polymorphism of IL-1β and gout. Methods A total of 208 gout patients and 210 healthy controls were enrolled. The possible association between the polymorphism of IL-1 β -3 1C/T and gout in Chinese were investigated and genotype frequencies and allelic frequencies was calculated by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method. Hardy-Weinberg was used to verify the representativeness of the sample. Comparisons between the groups were performed with χ2 test and t-test. Results The frequencies of CC, CT, and TT genotypes were 32.7%, 43.3% and 24.0%,respectively among gout patients, while they were 31.9%,46.2% and 21.9%, respectively among the controls.There was no statistically difference in IL-1β -31C/T genotype frequencies between gout patients and controls (χ2=0.427, P>0.05). The allele frequencies of C and T in gout cases were different from those in the controls (54.3%, 55.0%; 45.7%, 45.0%; χ2=0.038, P>0.05). Moreover, no association between IL- I β-31 C/T genotypes and risk factors for gout were observed in gout cases by χ2 test. Conclusion Results of the present study suggest that the C/T genotype of rs1143627 in the promoter of IL-1β gene is not associated with gout in male population living in the coastal area of Shandong.     

血清淀粉样蛋白A1基因多态性对汉族人群颈动脉内中膜厚度的影响

目的 探讨血清淀粉样蛋白A1(SAA1)基因多态性对颈动脉内中膜厚度(IMT)的影响.方法资料来源于2007至2010年"新疆维吾尔自治区不同民族心血管疾病危险因素调查研究"数据,人选其中健康汉族人群449例,采用限制性片段长度多态性(RFLP)方法对SAA1基因rs2229338和rs12218进行分型.彩色超声检测颈总动脉干部内中膜厚度(CC-IMT)和膨大部内中膜厚度(CB-IMT),分析不同基因型之间颈动脉IMT的差异.结果 (1)rs2229338和rs12218存在强连锁不平衡(D'=0.89).(2)SAA1基因rs2229338突变型(GG+AG)与野生型(AA)的CC-IMT和CB-IMT值差异均无统计学意义.(3)SAA1基因rs12218突变型(CC+CT)CC-IMT值大于野生型(TT)[(0.081±0.071)cm比(0.068±0.019)cm,P=0.01],在校正年龄、性别、血压、腰围、肌酐和高密度脂蛋白胆固醇的影响后,差异仍具有统计学意义(P=0.04);rs12218突变型(CC+CT)与野生型(TT)的CB-IMT值差异无统计学意义[(0.085±0.038)cm比(0.081±0.052)cm,P=0.36].结论在新疆维吾尔自治区汉族人群,SAA1基因多态性和颈动脉IMT存在关联,rs12218突变型基因可能会增加颈动脉IMT.

Abstract：

Objective To explore the association between genetic polymorphism of serum amyloid protein A1 (SAA1) with carotid intima media thickness in a healthy Han Chinese population of Xinjiang. Methods A total of 449 healthy Han Chinese participating the cardiovascular risk survey between June 2007 and September 2009 were included, the genotypes of the SAA1 were detected by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). The mean IMT of the right and left common carotid arteries were measured by B-mode ultrasonography. Results (1) There was strong linkage disequilibrium between rs12218 and rs2229338 (D'=0. 89). (2) The carotid common IMT (CC-IMT) and the carotid bulb IMT (CB-IMT) were similar between the AA genotype (wild genotype) and the GGFAG genotype (mutational genotype) in rs2229338 of SAA1 gene. (3) CC-IMT[(0.081 ±0.071)cm vs (0.068 ±0. 019 ) cm, P = 0. 01] was significantly thicker in CC + CT genotype ( mutational genotype) group than in TT genotype (wild genotype) of rs12218 group and the difference remains significant after adjustment for age,gender,blood pressure, waist circumference, creatinine and high density lipoprotein cholesferoL CB-IMT [(0.085±0. 038)cm vs. (0.081 ± 0. 052) cm,P =0. 36] was similar between CC +CT genotype and TT genotype of rs12218 groups. Conclusion Our results suggested that the genetic polymorphism of SAA1 might be linked with IMT and rs12218 mutation could serve as a promoting factor for IMT in Han Chinese people.     

Genetic polymorphism of MCP-1-2518, IL-8-251and susceptibility to acute pancreatitis： A pilot study in population of Suzhou, China

AIM： To study the relationship between MCP-1-2518A/ G, IL-8-251A/T polymorphism and acute pancreatitis （AP） in the Han population of Suzhou, China.
METHODS： A case-control study was conducted to compare the distribution of genotype and genetic frequency of MCP-1-2518A/G, IL-8-251A/T gene polymorphism among AP （n = 101）, including mild AP （n = 78） and severe AP （n = 23） and control healthy individuals （n = 120） with polymerase chain reaction- restriction fragment length polymorphism （PCR-RFLP） and DNA sequencing, and analyze the relationship between the MCP-1-2518A/G, IL-8-251A/T gene polymorphism and the susceptibility to AP.
RESULTS： Significant differences were found in the distribution of genotype of MCP-1-2518A/G between the healthy control group and mild AP group （χ^2 = 32.015, P 〈 0.001）, the same was evident between the healthy control group and severe AP group （χ^2 = 12.932, P 〈 0.05） in Suzhou. However, no difference of genotypic distribution was noted between MAP and SAP （Z2 = 0.006, P = 0.997）. The genetic frequencies of G allele in mild AP were 72.4% （113/156） and 76.1% （35/46） in severe AP, both were higher than the controls, 47.1% （113/240） （χ^2 = 24.804; P 〈 0.001, and 4,2 = 13：005; P 〈 0.001）, but no difference was found between severe AP and mild AP （χ^2 = 0.242, P = 0.623）. No difference was found in the distribution of genotype of IL-8-251A/T between the healthy control group and AP group neither in the frequency of A and T allele.
CONCLUSION： The MCP-1-2518 AA genotype of the population in Suzhou may be a protective genotype of AP, while one with higher frequency of G allele is more likely to suffer from pancreatitis. But the genotype of AA and the frequency of G allele could not predict the risk of severe AP. No correlation is found between the IL-8-251 polymorphism and the liability of AP.     

Lack of association between cellular repressor of E1A-stimulated genes(GREG)polymorphisms and coronary artery disease in the Han population of North China

Objectives Phenotypic switching of smooth muscle cells(SMCs) plays a critical role in the pathogenesis of atherosclerotic lesions such as coronary artery disease (CAD).Accumulating evidence demonstrates(hat a cellular repressor of E1A-stimulated genes(CREG) plays a role in the maintenance of the mature phenotype of vascular SMCs. The purpose of the present study was to assess the possible association between CREG and CAD in the Han population of North China.Methods The promoter region of CREG by direct sequencing was conducted in 48 subjects.Then SNP rs2995073 and another 4 tagSNPs(rs4657669,rs3767443, rsl6859185,rs3753921) were selected for the association study.All five selected SNPs were determined in 1161 patients with angiographically proven CAD and 960 controls with normal coronary angiograms to investigate the possible involvement of CREG in CAD.Results Genotype frequencies of the five examined polymorphisms were similarly distributed between CAD group and controls(P>0.05).Further haplotype analysis also found no significant differences in the distributions between CAD group and controls(P>0.05). Conclusions This study did not show an association between common variants of CREG and CAD in the northern Chinese Han population.     

中国汉族人尿酸盐转运蛋白1基因启动子区多态性与原发性高尿酸血症的关联研究

目的 研究中国汉族人群人尿酸盐转运蛋白1( hURAT1)基因启动子区单核苷酸多态性(SNP)与原发性高尿酸血症的相关性.方法 应用PCR扩增、基因测序方法对538名青岛及周边地区汉族人(其中原发性高尿酸血症患者215例,正常对照者323名)hURAT1基因启动子区进行序列分析.结果 中国汉族人群中hURAT1基因启动子区共发现5个多态性位点,分别为-454A/T、-434T/C、- 382C/T、-87C/T、+118G/A,5个SNPs高度连锁(r2=0.99).5个SNPs杂合突变基因型(AT、CT、CT、CT、AG)频率的分布在高尿酸血症组和正常对照组之间差异有统计学意义(均P＜0.05).logistic回归分析显示,杂合突变基因型者( AT、CT、CT、CT、AG)发生高尿酸血症的风险较野生基因型者(AA、TT、CC、CC、GG)降低(OR 0.68～0.75).突变型等位基因(T、C、T、T、A)携带者发生高尿酸血症的危险性比野生等位基因(A、T、C、C、G)携带者明显降低(P=0.022,P=0.038).结论 hURAT1基因启动子区-454A/T、-434T/C、-382C/T、-87C/T、+118G/A SNPs与原发性高尿酸血症密切相关.     

Correlation between single nucleotide polymorphism of rs3811047 in IL-1 F7 gene and rheumatoid arthritis susceptibility among Han population in central plains of China

ObjectiveTo discuss the association between single nucleotide polymorphism (SNP) of rs3811047 in IL-1 F7 gene and rheumatoid arthritis (RA) susceptibility among the Han population in central plains of China.MethodsA total of 276 RA patients admitted to our hospital from December 2009 to December 2011 together with 276 healthy physical examinees in the same period were chosen as the subjects. The typing for rs3811047 SNP in IL-1 F7 gene was carried out by using ligase detection reaction and polymerase chain reaction technique. And the frequency of each allele and genotypes distribution was calculated so as to evaluate the association between genotype distribution and RA susceptibility.ResultsThe frequency of A allele of rs3811047 in IL-1 F7 gene in RA group and control group was 16.27% and 17.68%, respectively, and that of G allele in two groups was 83.73% and 82.32%, respectively. The difference between two groups wasn't statistical significant (P >0.05). The frequency of genotype AA, AG and GG in RA group was 2.19%, 27.84% and 69.97%, respectively, while that in control group was 2.94%, 29.78% and 67.28%, respectively. The difference of distribution of three genotypes was not statistically significant (P >0.05). RA patients with A allele were better than those without A allele in joint swelling index, rest pain, HAQ scoring and blood sedimentation. There was significant difference between two groups in above indexes (P<0.05/P<0.01).ConclusionsNo significant correlation between RA susceptibility among the Han population in central plains of China and rs3811047 SNP inIL-1 F7 gene is observed. However, A allele of rs3811047 has certain influence on the condition of RA patients.     

白细胞介素-7受体α基因多态性对亚洲人多发性硬化易感性的影响

目的 探讨亚洲人群白细胞介素-7受体α(IL-7RA)基因rs6897932多态性位点与多发性硬化(MS)遗传易感性的关系。 方法 采用反转录聚合酶链反应(RT-PCR)技术,对78例MS和视神经脊髓炎( neuromyelitis optica,NMO)患者(NMO组),187非MS的视神经脊髓炎(non-NMO MS)患者（non-NMO MS组）及158例健康对照组筛查IL-7RA基因分布频率,并进行统计学分析。结果 non-NMO MS组C等位基因频率89.3％（167例）明显高于对照组79.8％（126例）,差异有统计学意义(OR=2.12,95％CI:1.38～3.25,P＜0.01);CC等位基因型频率分别为78.6％( 147例)与63.3％（100例）,差异有统计学意义(OR=2.13,95％CI;1.32～3.43,P＜0.01);而NMO组与对照组C、CC等位基因频率比较,差异无统计学意义。 结论 IL-7RA基因rs6897932多态性位点影响亚洲人群MS遗传易感性。C等位基因为MS的易感因子,T等位基因则可能为MS的保护因子。     

新疆哈萨克族和汉族代谢综合征患者脂蛋白脂酶基因HindⅢ和S447X单体型和连锁不平衡分析

目的探讨脂蛋白脂酶基因HindⅢ和S447x多态性位点之间的连锁不平衡和单体型对新疆哈萨克族和汉族人群代谢综合征（MS）的影响。方法应用聚合酶链反应-限制性片段长度多态性法检测802例研究对象（包括哈萨克族和汉族MS患者各200例和对照各201例）的脂蛋白脂酶基因HindⅢ和S447X基因多态性。结果（1）哈萨克族和汉族MS组H-和x等位基因频率均低于各自对照组[哈萨克族H-等位基因：22．0％ vs 28．6％（P=0．031）,X等位基因5．5％VS12．4％（P=0．001）;汉族H-等位基因：18．0％ vs 28．9％（P=0．000）,X等位基因：4．0％ vs 12．4％（P=0．000）],但两民族间无差别（P均〉0．05）。（2）脂蛋白脂酶基因HindⅢ和S447X多态性位点之间存在强连锁不平衡。（3）该两个多态性位点之间只存在H＋／S、H-／s和H-／x三种单体型,两个民族MS组与对照组之间单体型频率均有统计学差异（X^2哈萨克=13．17,P=0．001;X^2汉=20．68,P=0．000）,两民族间无差别（P〉0．05）。（4）哈萨克族和汉族H＋H-／H—H-基因型与SX／XX基因型的组合都有升高HDL—C水平和降低TG水平的作用（P〈0．05）。结论脂蛋白脂酶基因HindⅢ和S447X多态性与MS相关,两位点之间存在强连锁不平衡,H-／X单体型可能是MS的保护因素,并对血脂水平产生有益的影响。     

转化生长因子β_1基因标签单核苷酸多态性与新疆汉族原发性高血压相关性研究

目的 研究转化生长因子β_1(TGF-β_1)基因标签单核苷酸多态(tSNP)及血浆水平与新疆汉族原发性高血压(EH)的关系,阐明连锁不平衡(LD)模式以及单体型分布特征.方法 采用整群抽取随机抽样的方式,以新疆沙湾县732例汉族人(EH组365例,对照组367例)为研究对象,进行流行病学调查和临床检查,并采集血样.用双抗体夹心法(ELISA试剂盒)测量TGF-β_1血浆浓度.SNaPshot方法进行基因分型.结果 (1)TGF-β_1基因rs11466345位点等位基因A、G在EH组和对照组中分布频率分别为69.7%、30.3%、74.4%、25.6%,EH组G等位基因频率高于对照组(x2=3.949,P=0.047),G等位基因患病风险为A等位基因1.261倍(95%CI 1.003～1.585,P=0.047),其他tSNP基因型及等位基因频率在EH组和对照组分布差异元统计学意义(P>0.05).(2)除m11466345位点外,其他tSNP位点间存在强LD,其构成的单体型频率在EH及对照组中分布差异无统计学意义(P>0.05).(3)TGF-β_1基因tSNP在EH组与对照组各基因型和等位基因之间TGF-β_1血浆水平差异无统计学意义(P>0.05).结论 TGF-β_1基因rs 11466345G等位基因可能是新疆汉族EH的遗传易感基因,其他tSNP可能与该民族EH不相关,除rs11466345位点外,其余tSNP位点间存在强LD,其构成的单体型与EH无关;在新疆汉族人群中TGF-β_1基因tSNP与TGF-β_1血浆水平不相关.     

白细胞介素-1F7基因单核苷酸多态性对强直性脊柱炎易感性与病情的影响

目的 探讨白细胞介素(IL)-1F7基因rs3811047位点单核苷酸多态性(SNP)对强直性脊柱炎(AS)易感性和临床表现型的影响.方法 收集AS患者158例和同期健康献血人群181名,采用连接酶检测反应(LDR-PCR)方法检测IL-1F7基因rs3811047位点SNP,分析其等位基因频率及基因型频率在AS和对照组中的分布,并比较不同基因型AS患者间临床表现型的差别.结果 AS患者和对照人群中rs3811047位点A等位基因频率(12.03%,17.68%)和G等位基因频率(87.97%,82.32%)的分布差异有统计学意义(x2=4.2204,P=0.0399);AA,AG,GG基因型频率在AS中分别为0,24.05%,75.95%,与对照组分布(2.76%,29.83%,67.41%)相比,差异亦有统计学意义(x2=6.2675,P=0.043).AG基因型的AS患者中人类白细胞抗原(HLA)-B27阳性率为70.27%(26/37),明显低于GG基因型AS中HLA-B27的阳性率94.23%(98/104),差异有统计学意义(x2=2.168,P=0.030);其红细胞沉降率和C反应蛋白水平明显亦低于GG基因型组(t=2.971,P=0.013;t=3.300,P=0.001).结论 安徽籍汉族人群AS易感性与IL-1F7基因rs3811047位点SNP有关,其基因型对AS的临床表现型有影响,携带A等位基因患者的炎症表现轻于不携带A等位基因的患者.     

中国汉族人群高血压脑出血患者NFATC1基因rs754093多态性观察

目的观察中国汉族人群高血压脑出血患者活化T细胞核因子1（NFATC1）基因rs754093的多态性。方法选择中国汉族人脑出血患者230例（观察组）和健康体检者233例（对照组）,采用多聚酶链反应一限制性内切酶片段长度多态性技术（PCR—RFLP）检测其血清中NFATC1基因rs754093的多态性。结果观察组基因型T／T、T／G、G／G及等位基因T、G的频率分别为34．1％、48．3％、17．4％、58．5％、41．5％,对照组分别为44．2％、44．6％、11．2％、66．5％、33．5％,两组比较,P均〈0．05。分析显示,相对于携带TT基因型者,携带GG＋TG基因型者脑出血发病风险增加51．4％;相对于携带T等位基因,携带G等位基因脑出血发病风险增加41．1％。结论中国汉族人群高血压脑出血患者NFATC1基因rs754093存在多态性,其中携带G／G基因型者易发生脑出血。     

白细胞介素-23R单核苷酸多态性rs1343151与强直性脊柱炎的相关性研究

目的 探讨白细胞介素(IL)-23R基因单核苷酸多态性rs1343151与强直性脊柱炎(AS)的关系.方法 常规方法对104例As患者和95名健康人群外周血进行基因组DNA抽提,用TaqMan探针对rs1343151位点进行聚合酶链反应(PCR)分型.应用x2检验统计分析病例组和对照组等位基因频率、等位基因型频率及其患病风险.结果 rs1343151位点各基凶型频率在AS组中分别为90.4%(C/C)、9.6%(C/T),在对照组中分别为91.6%(C/C)、8.4%(C/T),2组之间的基因型频率分布差异无统计学意义(x2=0.086,P>0.05);2组C和T等位基凶频率差异无统计学意义(x2=0.082,P>0.05).结论 IL-23R单核苷酸多态性rs1343151不是影响中国人群AS患者致病的主要因素.     

中国汉族人群NKX2-3基因上游区域rs10883365多态性与克罗恩病的相关性

背景:克罗恩病(CD)是一种复杂的多基因病,其病因和发病机制尚未完全阐明。最近研究显示NKX2-3基因上游区域rs10883365位点遗传变异与日本人群的CD发病呈正相关。目的:分析rs10883365位点多态性与中国汉族人群CD发病的相关性。方法:中国汉族CD患者和健康对照者各66例纳入研究,采用PCR-RFLP方法检测rs10883365位点基因型,并对酶切反应PCR产物行基因测序,比较两组间基因型和等位基因频率。结果:CD组rs10883365位点GG、AG和AA基因型频率分别为28.8%、47.0%和24.2%,G和A等位基因频率分别为52.3%和47.7%;而健康对照组相应基因型频率分别为27.3%、48.5%和24.2%,等位基因频率分别为51.5%和48.5%。两组间差异无统计学意义(P0.05)。结论:NKX2-3基因上游区域rs10883365位点多态性与中国汉族人群的CD发病无明显相关性。     

新疆汉族和哈萨克族人群内皮型一氧化氮合酶基因T786C和G894T多态性与原发性高血压的相关分析

目的探讨新疆汉族和哈萨克族内皮型一氧化氮合酶基因G894T、T786C多态性与原发性高血压的相关性。方法选取新疆塔城地区哈萨克族高血压患者363人和正常血压者370人,选取汉族高血压患者346人,正常血压者385人,运用多重单碱基延伸分型技术进行内皮型一氧化氮合酶基因G894T、T786C多态性分析,阐明两民族基因型、等位基因频率分布、连锁不平衡模式及构建的单体型与原发性高血压的相关性。结果超重、肥胖、甘油三酯异常及年龄51岁以上是两民族患高血压的共同相关危险因素。总人群、原发性高血压组及正常血压组中两民族内皮型一氧化氮合酶基因G894T、T786C位点等位基因频率分布差异均有统计学意义(P<0.05),两位点间不存在强连锁不平衡。汉族和哈萨克族人群内皮型一氧化氮合酶基因两位点共构成4种单体型:GT(75.3%和79.6%)、GC(10.8%和10.5%)、TT(5.7%和9.8%)及TC(8.2%和0.1%)。两民族单体型频率分布最高为GT,汉族和哈萨克族人群单体型频率分布最低分别是TC、TT,且两民族间单体型GT、TT、TC频率分布差异有统计学意义(P<0.05)。结论新疆汉族和哈萨克族人群内皮型一氧化氮合酶基因G894T、T786C位点多态可能与原发性高血压不相关。